Detection of E2A-PBX1 fusion transcripts in human non-small-cell lung cancer

Background: e2a-pbx1 fusion gene caused by t(1;19)(q23;p13),has been well characterized in acute lymphoid leukemia (all). there is no report on e2a-pbx1 fusion transcripts in non-small-cell lung cancer (nsclc). methods. we used polymerase chain reaction (pcr) to detect e2a-pbx1 fusion transcripts in human nsclc tissue specimens and cell lines. we analyzed correlation of e2a-pbx1 fusion transcripts with clinical outcomes in 76 patients with adenocarcinoma in situ (ais) and other subgroups. we compared mutation status of k-ras,p53 and egfr in 22 patients with e2a-pbx1 fusion transcripts. results: we detected e2a-pbx1 transcripts in 23 of 184 (12.5%) nsclc tissue specimens and 3 of 13 (23.1%) nsclc cell lines. presence of e2a-pbx1 fusion transcripts correlated with smoking status in female patients (p = 0.048),ais histology (p = 0.006) and tumor size (p = 0.026). the overall survival was associated with gender among ais patients (p = 0.0378) and ais patients without e2a-pbx1 fusion transcripts (p = 0.0345),but not among ais patients with e2a-pbx1 fusion transcripts (p = 0.6401). the overall survival was also associated with status of e2a-pbx1 fusion transcripts among ais stage ia patients (p = 0.0363) and ais stage ia female patients (p = 0.0174). in addition,among the 22 patients with e2a-pbx1 fusion transcripts,12 (54.5%) patients including all four non-smokers,showed no common mutations in k-ras,p53 and egfr. conclusions: e2a-pbx1 fusion gene caused by t(1;19)(q23;p13) may be a common genetic change in ais and a survival determinant for female ais patients at early stage. © 2013 mo et al.; licensee biomed central ltd.